| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS64+1G>A (c.8226+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| Skipping of exon 64, frameshift | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GAGgtgggt |
| GAGatgggt |
| -30.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0260 I0001 | Proband | Female | de novo | BELGIUM |
| Phenotypic group | Disease |
| NA | Marfanoid-Progeroid-Lipodystrophy |
| Symptom | Age |
| C-Aortic dilatation (unspecified) | 16 |
| CF-Deep set eyes | |
| CF-Proptosis | 16 |
| O-Myopia >3 diopters (1) | 16 |
| S-Arachnodactyly (M) | 16 |
| S-Dolichostenomelia | 16 |
| S-Joint hypermobility (m) | 16 |
| S-Plain pes planus (M)(1) | 16 |
| Reference ID | PubMed ID | Reference |
| 279 | 24613577 | Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Pi*rard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG. "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene". Eur J Med Genet. 2014 Apr;57(5):230-4. |